Canonical Allele Identifier: CA370427376

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059384C>T , CM000670.2:g.18059384C>T	GRCh38
NC_000008.10:g.17916893C>T , CM000670.1:g.17916893C>T	GRCh37
NC_000008.9:g.17961173C>T	NCBI36
NG_008985.1:g.30615G>A
NG_008985.2:g.30615G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.998G>A MANE Select	NP_808592.2:p.Arg333His
ENST00000637790.2:c.998G>A MANE Select	ENSP00000490272.1:p.Arg333His
NM_001127505.1:c.980G>A	NP_001120977.1:p.Arg327His
NM_001127505.2:c.980G>A	NP_001120977.1:p.Arg327His
NM_001127505.3:c.980G>A	NP_001120977.1:p.Arg327His
NM_001363743.1:c.803G>A	NP_001350672.1:p.Arg268His
NM_001363743.2:c.803G>A	NP_001350672.1:p.Arg268His
NM_004315.4:c.1046G>A	NP_004306.3:p.Arg349His
NM_004315.5:c.1046G>A	NP_004306.3:p.Arg349His
NM_004315.6:c.1046G>A	NP_004306.3:p.Arg349His
NM_177924.3:c.998G>A	NP_808592.2:p.Arg333His
NM_177924.4:c.998G>A	NP_808592.2:p.Arg333His
ENST00000262097.10:c.998G>A	ENSP00000262097.6:p.Arg333His
ENST00000314146.10:c.980G>A	ENSP00000326970.10:p.Arg327His
ENST00000381733.8:c.1046G>A	ENSP00000371152.4:p.Arg349His
ENST00000381733.9:c.1046G>A	ENSP00000371152.4:p.Arg349His
ENST00000518746.2:n.2684G>A
ENST00000520781.5:c.923G>A	ENSP00000427751.1:p.Arg308His
ENST00000520781.6:c.923G>A	ENSP00000427751.1:p.Arg308His
ENST00000635756.1:c.411G>A
ENST00000635944.1:c.*834G>A	ENSP00000490195.1:n.*834G>A
ENST00000635998.1:c.998G>A	ENSP00000490506.1:p.Arg333His
ENST00000636009.1:c.855G>A	ENSP00000489988.1:n.855G>A
ENST00000636033.1:c.*834G>A	ENSP00000489617.1:n.*834G>A
ENST00000636050.1:c.*841G>A	ENSP00000490562.1:n.*841G>A
ENST00000636128.1:c.677G>A	ENSP00000489789.1:p.Arg226His
ENST00000636160.1:c.*890G>A	ENSP00000489651.1:n.*890G>A
ENST00000636171.1:c.941G>A	ENSP00000489761.1:p.Arg314His
ENST00000636455.1:c.965+188G>A	ENSP00000490502.1:n.965+188G>A
ENST00000636494.1:c.*778G>A	ENSP00000490388.1:n.*778G>A
ENST00000636563.1:n.660G>A
ENST00000636577.1:c.938G>A	ENSP00000490027.1:p.Arg313His
ENST00000636691.1:c.803G>A	ENSP00000490725.1:p.Arg268His
ENST00000636701.1:c.*649G>A	ENSP00000489800.1:n.*649G>A
ENST00000636815.1:c.915G>A
ENST00000636920.1:c.*834G>A	ENSP00000490437.1:n.*834G>A
ENST00000636997.1:c.911G>A	ENSP00000490093.1:p.Arg304His
ENST00000637013.1:c.*1366G>A	ENSP00000490596.1:n.*1366G>A
ENST00000637014.1:n.1405G>A
ENST00000637095.1:c.*778G>A	ENSP00000490415.1:n.*778G>A
ENST00000637244.1:c.*1516G>A	ENSP00000490188.1:n.*1516G>A
ENST00000637343.1:n.2435G>A
ENST00000637429.1:c.*1210G>A	ENSP00000490522.1:n.*1210G>A
ENST00000637484.1:c.*960G>A	ENSP00000490837.1:n.*960G>A
ENST00000637528.1:c.935G>A	ENSP00000490801.1:p.Arg312His
ENST00000637609.1:n.3719G>A
ENST00000637636.1:c.992G>A	ENSP00000490112.1:p.Arg331His
ENST00000637857.1:n.1364G>A
ENST00000637922.1:c.803G>A	ENSP00000490071.1:p.Arg268His
ENST00000637991.1:c.971G>A	ENSP00000489901.1:p.Arg324His
ENST00000638028.1:n.1215G>A
ENST00000638069.1:n.1819G>A
XM_005273504.2:c.932G>A	XP_005273561.1:p.Arg311His
XM_005273504.3:c.932G>A	XP_005273561.1:p.Arg311His